Novel compound heterozygous variants of TBXAS1 presenting with Ghosal hematodiaphyseal dysplasia treated with steroids

ConclusionWe report three Caucasian siblings from non ‐consanguineous parents with novel compound heterozygous variants ofTBXAS1 presenting with the phenotypes of GHDD. These three cases illustrate the variable clinical expressivity of the GHDD from two ‐compound heterozygous pathogenic variants ofTBXAS1.

Source: Molecular Genetics & Genomic Medicine - February 17, 2021 Category: Genetics & Stem Cells Authors: Sun Young Kim, Alexander Ing, Shunyou Gong, Kai Lee Yap, Rukhmi Bhat Tags: CLINICAL REPORT Source Type: research